NUS1-CDG

Type

Disease
External link(s)
- IEMbase
Gene
- NUS1 / NUS1 Pseudouridine Synthase 1
  6q22.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Pseudouridine synthase 1
Disease group(s)
- 18.4.1 Disorders of dolichol metabolism